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In affected members of a family segregating hypertrophic cardiomyopathy-10 (608758), Flavigny et al. (1998) identified a 52T-C transition in exon 2 of the MYL2 gene, resulting in a phe18-to-leu (F18L) substitution. Affected individuals were classified morphologically as Maron type 1, 2, or 3.